Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

PURPOSE: To determine the cause of Leber congenital amaurosis (LCA) and developmental cataracts in a consanguineous Pakistani family. METHODS: The diagnosis was established in all affected individuals of a Pakistani LCA family by medical history, funduscopy, and standard ERG. We performed genome-wid...

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Autores principales: Ahmad, Adeel, Daud, Shakeela, Kakar, Naseebullah, Nürnberg, Gudrun, Nürnberg, Peter, Babar, Masroor Ellahi, Thoenes, Michaela, Kubisch, Christian, Ahmad, Jamil, Bolz, Hanno Jörn
Formato: Artigo
Lenguaje:Inglês
Publicado: Molecular Vision 2011
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3154126/
https://ncbi.nlm.nih.gov/pubmed/21850168
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